immunodeficiency 45

Term ID

DOID:0111994

Synonyms

• IMD45

Definition

A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. https://pubmed.ncbi.nlm.nih.gov/26424569/

References

• OMIM:616669

Ontology

Human Disease   ( DOID:0111994 )